Document Detail

Essential fatty acid profiling for routine nutritional assessment unmasks adrenoleukodystrophy in an infant with isovaleric acidaemia.
MedLine Citation:
PMID:  19089597     Owner:  NLM     Status:  In-Data-Review    
We report a 16-month-old asymptomatic male with enzyme confirmed isovaleric acidaemia (IVA; isovaleryl-CoA dehydrogenase deficiency; OMIM 243500) who, upon routine nutritional follow-up, presented evidence of peroxisomal dysfunction. The newborn screen (2 days of life) revealed elevated C(5)-carnitine (2.95 μmol/L; cutoff <0.09 μmol/L) and IVA was subsequently confirmed by metabolic profiling and in vitro enzymology. Plasma essential fatty acid (EFA) analysis, assessed to evaluate nutritional status during protein restriction and L: -carnitine supplementation, revealed elevated C(26:0) (5.0 μmol/L; normal <1.3). Subsequently, metabolic profiling and molecular genetic analysis confirmed X-linked adrenoleukodystrophy (XALD). Identification of co-inherited XALD with IVA in this currently asymptomatic patient holds significant treatment ramifications for the proband prior to the onset of neurological sequelae, and critically important counselling implications for this family.
R Bonilla Guerrero; L A Wolfe; N Payne; S Tortorelli; D Matern; P Rinaldo; D Gavrilov; M Melan; M He; S J Steinberg; G V Raymond; J Vockley; K M Gibson
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Publication Detail:
Type:  Journal Article     Date:  2008-12-16
Journal Detail:
Title:  Journal of inherited metabolic disease     Volume:  31 Suppl 2     ISSN:  1573-2665     ISO Abbreviation:  J. Inherit. Metab. Dis.     Publication Date:  2008 Dec 
Date Detail:
Created Date:  2011-09-06     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7910918     Medline TA:  J Inherit Metab Dis     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  453-6     Citation Subset:  IM    
Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, Minnesota, USA.
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